Canonical Allele Identifier: CA1429222168

Gene: CCDC50

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.191375192_191375198delinsGCCAGAA , CM000665.2:g.191375192_191375198delinsGCCAGAA	GRCh38
NC_000003.11:g.191092981_191092987delinsGCCAGAA , CM000665.1:g.191092981_191092987delinsGCCAGAA	GRCh37
NC_000003.10:g.192575675_192575681delinsGCCAGAA	NCBI36
NG_008994.1:g.51108_51114delinsGCCAGAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392455.9:c.579_585delinsGCCAGAA MANE Select	ENSP00000376249.4:p.Glu193=
ENST00000392456.4:c.449-4967_449-4961delinsGCCAGAA	ENSP00000376250.4:n.449-4967_449-4961delinsGCCAGAA
ENST00000392455.7:c.449-4967_449-4961delinsGCCAGAA	ENSP00000376249.3:n.449-4967_449-4961delinsGCCAGAA
ENST00000392456.3:c.579_585delinsGCCAGAA	ENSP00000376250.3:p.Glu193=
NM_174908.3:c.449-4967_449-4961delinsGCCAGAA	NP_777568.1:n.449-4967_449-4961delinsGCCAGAA
NM_178335.2:c.579_585delinsGCCAGAA	NP_848018.1:p.Glu193=
XM_011512460.1:c.579_585delinsGCCAGAA	XP_011510762.1:p.Glu193=
NM_178335.3:c.579_585delinsGCCAGAA MANE Select	NP_848018.1:p.Glu193=
NM_174908.4:c.449-4967_449-4961delinsGCCAGAA	NP_777568.1:n.449-4967_449-4961delinsGCCAGAA